Details of Disease | DrugMAP

General Information of Disease (ID: DISEMXBI)

Disease Name	Retinitis pigmentosa 38
Synonyms	Rod-cone dystrophy, childhood-onset; retinitis pigmentosa type 38; RP38; retinitis pigmentosa 38; MERTK retinitis pigmentosa; retinitis pigmentosa caused by mutation in MERTK
Definition	Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene.
Disease Hierarchy	DISCGPY8: Retinitis pigmentosa DISG7EC5: MERTK-related retinopathy DISEMXBI: Retinitis pigmentosa 38
Disease Identifiers	MONDO ID MONDO_0013469 UMLS CUI C3151228 OMIM ID 613862 MedGen ID 462578

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MERTK	TTO7LKR	moderate	Genetic Variation	[1]
MERTK	TTO7LKR	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MERTK	OTWBRAJ6	Definitive	Autosomal recessive	[2]
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References

1	Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.Nat Genet. 2000 Nov;26(3):270-1. doi: 10.1038/81555.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.